Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer.

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Abstract

The prevalence of MLH1 constitutional epimutations in the general population is unknown. We sought to analyse the prevalence of MLH1 constitutional epimutations in unselected and selected series of patients with colorectal cancer (CRC).

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Journal

Journal ID (iso-abbrev): J. Med. Genet.

Title: Journal of medical genetics

ISSN (Electronic): 1468-6244

ISSN (Print): 0022-2593

Publication date (Electronic): Jul 2015

Volume: 52

Issue: 7

Affiliations

[1 ] Molecular Genetics Laboratory, Elche University Hospital, Elche, Spain.

[2 ] Research Laboratory, Alicante University Hospital, Alicante, Spain.

[3 ] Research Laboratory, Alicante University Hospital, Alicante, Spain Department of Gastroenterology, Alicante University Hospital, Alicante, Spain.

[4 ] Department of Pathology, Alicante University Hospital, Alicante, Spain.

[5 ] Medical Oncology Department, Consorcio Provincial Hospital, Castellon, Spain.

[6 ] Hereditary Cancer Unit, Valencian Institute of Oncology, Valencia, Spain.

[7 ] Genetic Counseling in Cancer Unit, Elche University Hospital, Elche, Spain.

[8 ] Laboratory of Molecular Biology, Valencian Institute of Oncology, Valencia, Spain.

[9 ] Galician Public Foundation of Genomic Medicine (FPGMX), Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Genomics Medicine Group, Hospital Clinico Santiago de Compostela, University of Santiago de Compostela Santiago de Compostela, Santiago de Compostela, Spain.

[10 ] Department of Gastroenterology, Donostia Hospital-Instituto Biodonostia, CIBERehd, University of the Basque Country (UPV/EHU), San Sebastian, Spain.

[11 ] Section of Digestive Diseases, Internal Medicine Department, Hospital Sagunto, Sagunto, Spain.

[12 ] Section of Digestive Diseases and Nutrition, Department of Medicine and Cancer Center, University of Illinois at Chicago, Chicago, Illinois, USA.

[13 ] Department of Gastroenterology, IMIM, Hospital del Mar, Parc de Salut Mar. Pompeu Fabra University, Barcelona, Spain.

[14 ] Department of Gastroenterology, Hospital Clinic, CIBERehd, IDIBAPS, University of Barcelona, Barcelona, Spain.

[15 ] Department of Gastroenterology, Alicante University Hospital, Alicante, Spain.

Article

Publisher Item ID: jmedgenet-2015-103076

DOI: 10.1136/jmedgenet-2015-103076

PubMed ID: 25908759

SO-VID: a4646b3a-d7d0-454e-b9cd-9d9ab254af0f

History

Keywords: Cancer: colon,Clinical genetics,Epigenetics

Data availability:

Keywords: Cancer: colon, Clinical genetics, Epigenetics

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